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Congenital Anomilies

NMS Test 2

QuestionAnswer
Congenital Anomiles defects in the development of body form or function that are present at the time of birth
What percent of infants have observable defects at the time of birth 3%
What percent of babies will have detectable defects identified by age 1 6%
What are the most important etiologies to consider genetic defects, environmental influences, or a combo
Aplasia failure to form entirely
Hypoplasia failure to grow to normal size
Dysplasia growth is abnormal
hypertrophy overgrown
Arrested failure of completion of growth
Examples of localized congenital anomalies of joints unstable, dislocated, Klippel-Feil syndrome, club foot
Diagnosis of congenital anomilies can be done before baby is born but not all can be diagnosed like this
Maternal Serum Alpha Fetoprotein when a fetus has an open neural tube defect
How to test for Maternal serum alpha fetoprotein the level is elevated
What to do if there is an elevated MSAFP meticulois, detailed ultrasonographic evaluation of the fetal anatomy
Abnormalities that can be diagnosed prior to birth Achondroplasia, osteogenesis imperfecta, amyoplasia Congenita
Congenital overriding of the fifth toe results from a dorsal subluxation of the metatarsophalangeal joint
What can they do for a congenital overriding of the fifth toe and does it work surgery is usually done and has positive outcomes
Congential varus of the small toes is also known as what curly toes
What happens in congenital varus of the small toes the end of the curved toe tends to lie under its medial neighbor
Metatarsus Primus Varus adduction deformity where there is a medial deviation of the first metatarsal
Metatarsus Adductus varus deviation of all five metatarsals in relation to the hindfoot
Metatarsus adductus causes the foot to have what shape concave inner border and a convex outer boarder
How often does metatarsus adductus happen 2 in every 1000 live births
What is the treatment for metatarsus adductus if it is a mild case if it is mild then the stretching the parents does works and do not allow them to sleep face down
The most extreme cases of metatarsus adductus will have to be treated how with Denis Browne type of boot splint at night or a Wheaton brace
Congenital Club Foot forefoot adduction and supination through the medtarsal joint, equinus through the angle jointk, and medial deviation of the entire foot in relation to the knee
Talipes Varus J shape - foot inwards
Talipes Valgus L shaped - foot rotates outward
Talipes equinos foot downward - toe dancer
Talipes Calcaneovalgus foot upward - heel pointing down
Treatment of club foot casts, Denis Browne splint, and straight last shoes/boots, but can lead to surgery
Congenital Plantar Flexed Talus plantar flexion of the hindfoot and dorsiflexion of the forefoot
Treatment of Congenital Plantar Flexed Talus surgery is needed for this
Tarsal Coalition any two of the tarsal bones in the hindfoot may be congenitally joined together by a bridge or bar
Treatment of Tarsal Coalition at a young age surgical excision of the area
Aplasia - Hypoplasia of the long bones is very rare ut if it happens it involes the fibula, tibia, or femur
Illizarov Technique is used for what limb length inequality,
Congenital dislocation of the knee anterior dislocation of the knee joint causing it to go into gross hyperextension and abduction
Developmental Coxa vara congenital degect of ossification in the femoral neck
Results of coxa vara short limb, positive trendelenburg sign, lurching gait
Treatment of coxa vara surgical abduction subtrochanteric osteotomy of the femur
If developmental dysplasia of the hip is treated early what can happen painfull crippling degenerative arthritis of the hip early in life
Dislocation of the hip refers to what the femoral head being completely outside the socket but still within the stretched and elongated capsule
Subluxation of the hip refers to what the femoral head riding literally and proximally but still in contact with at least a part of the acetabulum
How often does developmental dysplasia of the hip 1.5 cases for every 1000 live births
Statistics of DD of Hip bilateral in more than half, eight times more often does it affect females, family history of it matters, high in breach presentation births
What ortho tests are used to identify DDH Barlow's, Ortolani's sign, x-ray
What is barlow's test hip is adducted slightly while pressing downward along the long axis of the femur, when positive the femoral head slides posteriorly out of the acetabulum
Ortalani's Sign if the hip is already dislocated, the femoral head lies posterior to the acetabulum when the hip is in the flexed position and it can be reduced by abduction whiile lifting the femur forward
If you see an extra horizontal buttock fild skin crease or limitation of passibe abduction what should you think DDH
A positive trendelenburg's sign when the child stands on the foot of the effected side the hip abductor muscles cannot hold the pelvis
If child has DDH what can be done manual reduction and then Frejka pillow splint or Pavlik harness
Congenital Hemihypertrophy congenital enlargment of a lower limb and an upper limb on the same side as well as the entire half of the trunk and face
What happens in 2% of the kids that have congenital hemihypertrophy Wilm's tumor of the kidney
Treatment of Congenital hemihypertrophy only concern is limb length differenc eand could arrest the limb growth or lengthen the short leg
What causes congenital trigget thumb congenital constriction of the fibrous sheath of the flexor pollicis longus tendon
Treatment for congenital trigger thumb surgical divvision of the fibrous sheath
Syndactyly Webbing of the fingers
What is the most common congenital abnormality of the hand syndactyly
Hypoplasia of the radius clubhand - radial deviation of the hand
Treatment of hypoplasia of the hand surgical intervention for severe bilateral radial deviation
Dislocation of the head of the radius radius is dislocated laterally and overgrows in length
Cleidocranial dysostosis is when hypoplasia of the clavicals and delayed ossification of the skull happens
Where is spina bifida most common lumbo-sacral junction
Etiological factors of spina bifida mother has an elevated serum alpha-fetoprotein level, and inadequate intake of folic acid
Spina Bifida Occulta the mildest degree only visible on x-ray, not symptomatic
Spina Bifida with Meningocele meninges may extrude through a larger efect in neural arches forming a meningocele, covered by normal skin
Spina Bifida with Meningomyelocele spinal cord and nerve roots are involved, no muscle or fat present, skin can be thin if present at all, associated with severe neurological deficts
Spnia Bifida wth Myelocel Rachischis most severe, skin and sura have failed to close and everything is exposed, death during early infancy because of infection
Congenital Scoliosis Lateral curvature of the spine resulting from congenital anomalies within the vertebral column and related tissues
Klippel-Feil syndrom failure of segmentation of the cervical spine
Wry Neck congenital torticollis
Congenital torticollis contrature of one of the SCM muslcles, the head becomes tilted, or laterally flexed toward the affected side and rotated toward the opposite side
Osteogenesis Imperfecta Brittle bones, gongenital osteoporosis
how many types of osteogenesis imperfecta are there 4
Type 1 most common and mildest, head appears large, dentinogenesis
Type 2 most sever type, lethal, multiple fractures
Type 3 severe, fractures before walking, bowed limbs, dwarfism, kyphosis, and scoliosis
Type 4 fairly mild, sclerae are normal in color
Achondroplasia (dwarfism) short limb type, small midface and jaw with enlarged head
Arachnodactyly spider fingers
What happens in Arachnodactyly hyperchondrooplasia, child is taller and thinner than average, generalized weakness, scoliosis is common,, flat feet,
Enchondromatosis or Ollier's dyschondroplasia defective longitudinal growth of some long bones, unilateral, cartilaginous cells turn into solid bone and become enlarged cartilaginous mass with metaphysis
Radiographic appearance of Ollier's enchondomatosis widened metaphysis, irregular ossification and calcification,
Treatment of Ollier's Enchondomatosis surgical correction of bony deformities, or correction of limb length differences
Multiple Hereditary Exostoses multiple outgrowths of bone and cartilage from very broad metaphyseal regions of long bones, lack of normal osteoclastic activity
Treatment of Multiple hereditary Exostoses surgical removal of only those that are causing difficulties, or are of notable cosmetic concern
Neurofibromatosis von Recklinghausesn's Disease, generalized congenital abnormality of peripheral nerves
Cafe-au-lait spots areas of ligh brown pigmentation
Amyotonia Congenital generalized congenital abnormality of muscle charachterized at birth by an extreme lack of muscle tone
Amyoplasia Congenita cripplng congenital abnormality of muscle development charachterized by marked stiffness of the limbs
Created by: bowhay